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rs794726829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs794726829(-;-)
Make rs794726829(-;CAGA)
Make rs794726829(CAGA;CAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position166045263
GeneSCN1A
is asnp
is mentioned by
dbSNPrs794726829
ebirs794726829
HLIrs794726829
Exacrs794726829
Varsomers794726829
Maprs794726829
PheGenIrs794726829
hapmaprs794726829
1000 genomesrs794726829
hgdprs794726829
ensemblrs794726829
gopubmedrs794726829
geneviewrs794726829
scholarrs794726829
googlers794726829
pharmgkbrs794726829
gwascentralrs794726829
openSNPrs794726829
23andMers794726829
23andMe allrs794726829
SNP Nexus

SNPshotrs794726829
SNPdbers794726829
MSV3drs794726829
GWAS Ctlgrs794726829
Max Magnitude0
ClinVar
Risk rs794726829(;)
Alt rs794726829(;)
Reference rs794726829(ACAG;ACAG)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy
Variation info
Gene SCN1A
CLNDBN Severe myoclonic epilepsy in infancy
Reversed 1
HGVS NC_000002.11:g.166901773_166901776delTCTG
CLNSRC Peking University
CLNACC RCV000180956.1,